Joke Verheij

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42 Article
4 Meeting Abstract
2 Review article

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA
Haer-Wigman, L., den Ouden, A., van Genderen, M. M., Kroes, H. Y., Verheij, J., Smailhodzic, D., Hoekstra, A. S., Vijzelaar, R., Blom, J., Derks, R., Tjon-Pon-Fong, M., Yntema, H. G., Nelen, M. R., Vissers, L. E. L. M., Lugtenberg, D. & Neveling, K., Dec-2022, In: npj Genomic Medicine. 7, 1, 10 p., 65.
Research output: Contribution to journal › Article › Academic › peer-review

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Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy
Plantinga, M., Zwienenberg, L., van Dijk, E., Breet, H., Diphoorn, J., El Mecky, J., Bouman, K., Verheij, J., Birnie, E., Ranchor, A. V., Corsten-Janssen, N. & van Langen, I. M., May-2022, In: Prenatal Diagnosis. 42, 6, p. 762-774 13 p.
Research output: Contribution to journal › Article › Academic › peer-review

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6 Citations (Scopus)

28 Downloads (Pure)
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
Polla, D. L., Bhoj, E. J., Verheij, J. B. G. M., Wassink-Ruiter, J. S. K., Reis, A., Deshpande, C., Gregor, A., Hill-Karfe, K., Vulto-van Silfhout, A. T., Pfundt, R., Bongers, E. M. H. F., Hakonarson, H., Berland, S., Gradek, G., Banka, S., Chandler, K., Gompertz, L., Huffels, S. C., Stumpel, C. T. R. M., Wennekes, R., & 12 othersStegmann, A. P. A., Reardon, W., Leenders, E. K. S. M., de Vries, B. B. A., Li, D., Zackai, E., Ragge, N., Lynch, S. A., Cuddapah, S., van Bokhoven, H., Zweier, C. & de Brouwer, A. P. M., Apr-2021, In: Genetics in Medicine. 23, 4, p. 645-652 8 p.
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13 Citations (Scopus)

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A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound
Corsten-Janssen, N., Bouman, K., Diphoorn, J. C. D., Scheper, A. J., Kinds, R., El Mecky, J., Breet, H., Verheij, J. B. G. M., Suijkerbuijk, R., Duin, L. K., Manten, G. T. R., van Langen, I. M., Sijmons, R. H., Sikkema-Raddatz, B., Westers, H. & van Diemen, C. C., Sep-2020, In: Prenatal Diagnosis. 40, 10, p. 1300-1309 24 p.
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20 Citations (Scopus)

78 Downloads (Pure)
Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?
Bardi, F., Bosschieter, P., Verheij, J., Go, A., Haak, M., Bekker, M., Sikkel, E., Coumans, A., Pajkrt, E. & Bilardo, C., 2020, In: Prenatal Diagnosis. 40, 2, p. 197-205 9 p.
Research output: Contribution to journal › Article › Academic › peer-review

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29 Citations (Scopus)

584 Downloads (Pure)

Additional file 9: Table S8. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Dopazo, J. (Contributor), van IJcken, W. F. J. (Contributor), Brooks, A. S. (Contributor), Antiňolo, G. (Contributor), Pelet, A. (Contributor), Sham, P. C. (Contributor), Eggen, B. (Contributor), Chauhan, R. K. (Contributor), Shepherd, I. T. (Contributor), Schriemer, D. (Contributor), Chakravarti, A. (Contributor), Jalloh, B. (Contributor), Ceccherini, I. (Contributor), Verheij, J. (Contributor), Sribudiani, Y. (Contributor), van der Linde, H. C. (Contributor), van Ham, T. J. (Contributor), Hofstra, R. M. W. (Contributor), Lui, V. C. H. (Contributor), Cheng, W. W. (Contributor), So, M. (Contributor), Ruiz-Ferrer, M. (Contributor), Garcia-Barceló, M. (Contributor), Amiel, J. (Contributor), Griseri, P. (Contributor), Cherny, S. S. (Contributor), Ngan, E. S. W. (Contributor), Matera, I. (Contributor), Tam, P. K. H. (Contributor), Tang, C. S. M. (Contributor), Gui, H. (Contributor), Brouwer, R. W. W. (Contributor), Borrego, S. (Contributor), Le, T. (Contributor), Bleda, M. (Contributor), Berrios, C. (Contributor), van den Hout, M. C. G. N. (Contributor), Burns, A. J. (Contributor), Lyonnet, S. (Contributor) & Luzón-Toro, B. (Contributor), University of Groningen, 10-Mar-2017
DOI: 10.6084/m9.figshare.c.3712765_d12.v1, https://doi.org/10.6084%2Fm9.figshare.c.3712765_d12.v1
Dataset
Additional file 1: Table S1. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Shepherd, I. T. (Contributor), Brooks, A. S. (Contributor), van Ham, T. J. (Contributor), Schriemer, D. (Contributor), Bleda, M. (Contributor), Chakravarti, A. (Contributor), So, M. (Contributor), Verheij, J. (Contributor), Berrios, C. (Contributor), Le, T. (Contributor), Dopazo, J. (Contributor), Cheng, W. W. (Contributor), Tam, P. K. H. (Contributor), Matera, I. (Contributor), Sham, P. C. (Contributor), van den Hout, M. C. G. N. (Contributor), Hofstra, R. M. W. (Contributor), Ceccherini, I. (Contributor), Lui, V. C. H. (Contributor), Sribudiani, Y. (Contributor), Antiňolo, G. (Contributor), Jalloh, B. (Contributor), van IJcken, W. F. J. (Contributor), Chauhan, R. K. (Contributor), Luzón-Toro, B. (Contributor), Lyonnet, S. (Contributor), Borrego, S. (Contributor), Amiel, J. (Contributor), Pelet, A. (Contributor), Griseri, P. (Contributor), Garcia-Barceló, M. (Contributor), Gui, H. (Contributor), Tang, C. S. M. (Contributor), Burns, A. J. (Contributor), Brouwer, R. W. W. (Contributor), Ruiz-Ferrer, M. (Contributor), Ngan, E. S. W. (Contributor), Eggen, B. (Contributor), van der Linde, H. C. (Contributor) & Cherny, S. S. (Contributor), University of Groningen, 10-Mar-2017
DOI: 10.6084/m9.figshare.c.3712765_d4.v1, https://doi.org/10.6084%2Fm9.figshare.c.3712765_d4.v1
Dataset
Additional file 12: Table S11. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Dopazo, J. (Contributor), Amiel, J. (Contributor), Ngan, E. S. W. (Contributor), van den Hout, M. C. G. N. (Contributor), Matera, I. (Contributor), Tang, C. S. M. (Contributor), Cherny, S. S. (Contributor), Lyonnet, S. (Contributor), Garcia-Barceló, M. (Contributor), Chakravarti, A. (Contributor), Luzón-Toro, B. (Contributor), So, M. (Contributor), Shepherd, I. T. (Contributor), Eggen, B. (Contributor), Brooks, A. S. (Contributor), Sribudiani, Y. (Contributor), Ruiz-Ferrer, M. (Contributor), Hofstra, R. M. W. (Contributor), Bleda, M. (Contributor), Burns, A. J. (Contributor), Tam, P. K. H. (Contributor), Chauhan, R. K. (Contributor), Jalloh, B. (Contributor), van IJcken, W. F. J. (Contributor), Griseri, P. (Contributor), Ceccherini, I. (Contributor), van Ham, T. J. (Contributor), Cheng, W. W. (Contributor), Verheij, J. (Contributor), Brouwer, R. W. W. (Contributor), van der Linde, H. C. (Contributor), Le, T. (Contributor), Borrego, S. (Contributor), Gui, H. (Contributor), Pelet, A. (Contributor), Lui, V. C. H. (Contributor), Sham, P. C. (Contributor), Schriemer, D. (Contributor), Antiňolo, G. (Contributor) & Berrios, C. (Contributor), University of Groningen, 10-Mar-2017
DOI: 10.6084/m9.figshare.c.3712765_d3.v1, https://doi.org/10.6084%2Fm9.figshare.c.3712765_d3.v1
Dataset
Additional file 8: Table S7. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Berrios, C. (Contributor), Lui, V. C. H. (Contributor), Gui, H. (Contributor), van den Hout, M. C. G. N. (Contributor), Brouwer, R. W. W. (Contributor), Ceccherini, I. (Contributor), Luzón-Toro, B. (Contributor), So, M. (Contributor), Matera, I. (Contributor), Verheij, J. (Contributor), Sham, P. C. (Contributor), Griseri, P. (Contributor), Dopazo, J. (Contributor), Le, T. (Contributor), Hofstra, R. M. W. (Contributor), Lyonnet, S. (Contributor), Cherny, S. S. (Contributor), Sribudiani, Y. (Contributor), Bleda, M. (Contributor), Schriemer, D. (Contributor), Brooks, A. S. (Contributor), van der Linde, H. C. (Contributor), Chauhan, R. K. (Contributor), Jalloh, B. (Contributor), Ngan, E. S. W. (Contributor), Eggen, B. (Contributor), Pelet, A. (Contributor), Shepherd, I. T. (Contributor), Garcia-Barceló, M. (Contributor), Ruiz-Ferrer, M. (Contributor), Borrego, S. (Contributor), Burns, A. J. (Contributor), Tang, C. S. M. (Contributor), Amiel, J. (Contributor), van Ham, T. J. (Contributor), van IJcken, W. F. J. (Contributor), Cheng, W. W. (Contributor), Chakravarti, A. (Contributor), Tam, P. K. H. (Contributor) & Antiňolo, G. (Contributor), University of Groningen, 10-Mar-2017
DOI: 10.6084/m9.figshare.c.3712765_d11.v1, https://doi.org/10.6084%2Fm9.figshare.c.3712765_d11.v1
Dataset
Additional file 4: Table S3. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Sham, P. C. (Contributor), Tang, C. S. M. (Contributor), Brooks, A. S. (Contributor), Cheng, W. W. (Contributor), Ruiz-Ferrer, M. (Contributor), van IJcken, W. F. J. (Contributor), van der Linde, H. C. (Contributor), Schriemer, D. (Contributor), Borrego, S. (Contributor), Bleda, M. (Contributor), Cherny, S. S. (Contributor), Jalloh, B. (Contributor), Hofstra, R. M. W. (Contributor), van den Hout, M. C. G. N. (Contributor), Berrios, C. (Contributor), Ceccherini, I. (Contributor), Dopazo, J. (Contributor), Matera, I. (Contributor), Lyonnet, S. (Contributor), van Ham, T. J. (Contributor), Pelet, A. (Contributor), Burns, A. J. (Contributor), Chakravarti, A. (Contributor), Griseri, P. (Contributor), Chauhan, R. K. (Contributor), Gui, H. (Contributor), So, M. (Contributor), Lui, V. C. H. (Contributor), Sribudiani, Y. (Contributor), Le, T. (Contributor), Ngan, E. S. W. (Contributor), Brouwer, R. W. W. (Contributor), Shepherd, I. T. (Contributor), Verheij, J. (Contributor), Amiel, J. (Contributor), Antiňolo, G. (Contributor), Garcia-Barceló, M. (Contributor), Eggen, B. (Contributor), Tam, P. K. H. (Contributor) & Luzón-Toro, B. (Contributor), University of Groningen, 10-Mar-2017
DOI: 10.6084/m9.figshare.c.3712765_d7.v1, https://doi.org/10.6084%2Fm9.figshare.c.3712765_d7.v1
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Joke Verheij

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Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA

Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?

Additional file 9: Table S8. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Additional file 1: Table S1. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Additional file 12: Table S11. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Additional file 8: Table S7. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Additional file 4: Table S3. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Joke Verheij

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Research output

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